Duplication 7p de novo and literature review

We report on a boy with duplication of the short arm of chromosome 7 (karyotype 46,XY, dup (7) (p11.2----pter), QFQ, GTG, RBA). The boy showed delayed closure of fontanels, reduced eyebrows, short nose with low and broad nasal bridge, small upper and prominent full lower lips, severe delay of speech development. Comparison with the phenotype of 15 reported cases from the literature in relation to the extent of the duplicated segment did not show a clear phenotype/karyotype correlation.